Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.090 0.667 9 2001 2017
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0021364
Disease: Male infertility
Male infertility 		0.060 0.500 6 2011 2017
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.040 1.000 4 1998 2019
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.040 1.000 4 2011 2018
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.030 1.000 3 1998 2011
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		0.030 0.667 3 2004 2009
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 1.000 2 2009 2014
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 1.000 2 2009 2014
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 1.000 2 2009 2014
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.020 1.000 2 2010 2011
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 1.000 1 2010 2010
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.010 < 0.001 1 2008 2008
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		0.010 1.000 1 2018 2018
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding) 		0.010 1.000 1 2014 2014
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		0.010 1.000 1 2010 2010
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2019 2019
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0154208
Disease: Disorder of endocrine ovary
Disorder of endocrine ovary 		0.010 1.000 1 2006 2006